ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2089G>C (p.Val697Leu)

dbSNP: rs376888740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000691 SCV002270944 uncertain significance Fanconi anemia 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 697 of the FANCA protein (p.Val697Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs376888740, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCA protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002497948 SCV002806190 uncertain significance Fanconi anemia complementation group A 2021-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004976065 SCV005581130 uncertain significance Inborn genetic diseases 2024-11-23 criteria provided, single submitter clinical testing The p.V697L variant (also known as c.2089G>C), located in coding exon 23 of the FANCA gene, results from a G to C substitution at nucleotide position 2089. The valine at codon 697 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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